A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6596327



Internal ID20969398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:28377391..35730332hg38UCSC Ensembl
chr21:29749712..37102630hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg387352942
hg197352919
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18253009
Samples
Known GenesATP5O, BACH1, C21orf119, C21orf140, C21orf49, C21orf54, C21orf59, C21orf62, CCT8, CLDN17, CLDN8, CLIC6, CRYZL1, DNAJC28, DONSON, EVA1C, GART, GRIK1, GRIK1-AS1, GRIK1-AS2, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, IL10RB-AS1, ITSN1, KCNE1, KCNE2, KRTAP11-1, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LINC00159, LINC00160, LINC00161, LINC00189, LINC00307, LINC00310, LINC00649, LINC00945, LOC100506385, LOC100506403, LTN1, MAP3K7CL, MIR4327, MIR6501, MIR802, MIS18A, MRAP, MRPS6, N6AMT1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, RCAN1, RUNX1, RUNX1-IT1, RWDD2B, SCAF4, SLC5A3, SMIM11, SNORA80, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, URB1, USP16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6596327
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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